MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Corneal Dystrophies, Hereditary (D003317)
..Starting node ..Macular Dystrophy, Retinal, 2 (C562746)
Child Nodes:
Sister Nodes:
..Bietti Crystalline Dystrophy (C535440)
..Brachymesomelia renal syndrome (C537096)
..Chorioretinal atrophy, progressive bifocal (C535356)
..Congenital Corneal Opacities, Cornea Guttata, and Corectopia (C563921)
..Corneal cerebellar syndrome (C535472)
..Corneal Degeneration, Ribbonlike, with Deafness (C565157)
..Corneal dystrophy and perceptive deafness (C535473)
..Corneal dystrophy Avellino type (C535474)
..Corneal dystrophy of Bowman layer, type 1 (C535476)
..Corneal Dystrophy, Band-Shaped (C562399)
..Corneal Dystrophy, Central Type (C563262)
..Corneal Dystrophy, Congenital Stromal (C566452)
..Corneal Dystrophy, Crystalline, of Schnyder (C535475)
..Corneal Dystrophy, Endothelial, X-Linked (C567587)
..Corneal Dystrophy, Fleck (C563256)
..Corneal dystrophy, gelatinous drop-like (C535480)
..Corneal Dystrophy, Juvenile Epithelial of Meesmann (D053559)
..Corneal Dystrophy, Lattice Type IIIA (C563923)
..Corneal Dystrophy, Lisch Epithelial (C567588)
..Corneal Dystrophy, Posterior Amorphous (C567546)
..Corneal Dystrophy, Posterior Polymorphous, 1 (C562745)
..Corneal Dystrophy, Posterior Polymorphous, 2 (C565176)
..Corneal Dystrophy, Posterior Polymorphous, 3 (C563788)
..Corneal Dystrophy, Subepithelial Mucinous (C567547)
..Corneal dystrophy, Thiel-Behnke type (C535942)
..Corneal Endothelial Dystrophy 1 (C565156)
..Corneal endothelial dystrophy type 2 (C536439)
..Corneodermatoosseous syndrome (C536444)
..Dermochondrocorneal dystrophy of Fran莽ois (C535375)
..EDICT SYNDROME (OMIM:614303)
..Endothelial Dystrophy, Congenital Hereditary, with Nail Hypoplasia (C565591)
..Epithelial Recurrent Erosion Dystrophy (C565155)
..Fuchs' Endothelial Dystrophy (D005642) 10
..Groenouw type I corneal dystrophy (C537304)
..Ichthyosiform erythroderma, corneal involvement, deafness (C537363)
..Judge Misch Wright syndrome (C537692)
..Kuster Majewski Hammerstein syndrome (C538125)
..Lattice corneal dystrophy type 1 (C537881)
..Macular Corneal Dystrophy, Type II (C563270)
..Macular dystrophy, corneal type 1 (C537834)
..Macular Dystrophy, Fenestrated Sheen Type (C563607)
..Macular dystrophy, retinal, 1, North Carolina type (C537835)
..Macular Dystrophy, Retinal, 2 (C562746)
..Meretoja syndrome (C537459)
..MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
..Mousa Al din Al Nassar syndrome (C536989)
..O'Donnell Pappas syndrome (C537858)
..Oculodental syndrome Rutherfurd syndrome (C537732)
..Pseudoinflammatory fundus dystrophy, Finnish type (C535828)
..Sammartino De Crecchio Syndrome (C537229)
..Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy (C566660)
..Sveinsson Chorioretinal Atrophy (C566236)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

7335

Name:

Macular Dystrophy, Retinal, 2

Definition:

Alternative IDs:

OMIM:608051

ParentIDs:

MESH:D003317

TreeNumbers:

C11.204.236/C562746 |C11.270.162/C562746 |C16.320.290.162/C562746

Synonyms:

MCDR2

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: C562746
MeSH: C562746
OMIM: 608051;
MSeqDR :
Genes: PROM1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0030629	Perifoveal ring of hyperautofluorescence
3	HP:0000603	Central scotoma
4	HP:0007641	Dyschromatopsia
5	HP:0007793	Granular macular appearance
6	HP:0007754	Macular dystrophy
7	HP:0007663	Reduced visual acuity
8	HP:0007722	Retinal pigment epithelial atrophy

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_006017.3(PROM1):c.*1052G>A	8842	PROM1	Conflicting interpretations of pathogenicity	rs577484119	RCV000271338\|RCV000306689\|RCV000328709\|RCV000363732;	N	MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121	4	15969964	15969964	4:g.15969964C>T	ClinGen:CA10618184	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.*963A>G	8842	PROM1	Uncertain significance	rs886059196	RCV000265688\|RCV000323028\|RCV000358063\|RCV000380018;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MON	4	15970053	15970053	4:g.15970053T>C	ClinGen:CA10620363	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.*781G>A	8842	PROM1	Uncertain significance	rs1713636052	RCV001145504\|RCV001149842\|RCV001149844\|RCV001149843;	N	MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MON	4	15970235	15970235	4:g.15970235C>T	-
NM_006017.3(PROM1):c.*684C>T	8842	PROM1	Conflicting interpretations of pathogenicity	rs140362696	RCV000278098\|RCV000281713\|RCV000316805\|RCV000373870;	N	MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121	4	15970332	15970332	4:g.15970332G>A	ClinGen:CA10618194	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.*681C>G	8842	PROM1	Uncertain significance	rs947805890	RCV001145505\|RCV001145506\|RCV001145507\|RCV001147454;	N	MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121	4	15970335	15970335	4:g.15970335G>C	-
NM_006017.3(PROM1):c.*667A>C	8842	PROM1	Benign	rs2240688	RCV000294834\|RCV000348387\|RCV000352014\|RCV000386635\|RCV001660729;	N	MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121	4	15970349	15970349	4:g.15970349T>G	ClinGen:CA10617331	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.*640T>A	8842	PROM1	Uncertain significance	rs1713667197	RCV001147455\|RCV001147457\|RCV001147456\|RCV001148385;	N	MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MOND	4	15970376	15970376	4:g.15970376A>T	-
NM_006017.3(PROM1):c.*198T>C	8842	PROM1	Uncertain significance	rs1713762475	RCV001149946\|RCV001149948\|RCV001149945\|RCV001149947;	N	MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121	4	15970818	15970818	4:g.15970818A>G	-
NM_006017.3(PROM1):c.*189A>G	8842	PROM1	Uncertain significance	rs537324748	RCV001145609\|RCV001149949\|RCV001149950\|RCV001149951;	N	MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121	4	15970827	15970827	4:g.15970827T>C	-
NM_006017.3(PROM1):c.*107G>T	8842	PROM1	Uncertain significance	rs1024479425	RCV001145611\|RCV001145610\|RCV001145612\|RCV001145613;	N	MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MOND	4	15970909	15970909	4:g.15970909C>A	-
NM_006017.3(PROM1):c.2582+43C>T	8842	PROM1	Benign	-1	RCV001709322\|RCV001789545\|RCV001789544\|RCV001789546\|RCV001789547;	N	MedGen:CN517202\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0012796,MedGen:C2677516,OMIM:612095, Orphanet:791\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657,Orp	4	15980975	15980975	15980975	-
NM_006017.3(PROM1):c.2578A>G (p.Thr860Ala)	8842	PROM1	Conflicting interpretations of pathogenicity	rs747844753	RCV000261335\|RCV000318837\|RCV000353914\|RCV000375741\|RCV001861228;	N	MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121	4	15981022	15981022	4:g.15981022T>C	ClinGen:CA2866319	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.2551G>A (p.Val851Ile)	8842	PROM1	Uncertain significance	rs201910962	RCV000274437\|RCV000296764\|RCV000331908\|RCV000388672\|RCV001301011;	N	MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MOND	4	15981049	15981049	4:g.15981049C>T	ClinGen:CA2866323	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.2508G>A (p.Met836Ile)	8842	PROM1	Uncertain significance	rs534529507	RCV000291042\|RCV000339072\|RCV000344815\|RCV000383008;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|MON	4	15981509	15981509	4:g.15981509C>T	ClinGen:CA10620364	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.2489+8T>C	8842	PROM1	Uncertain significance	rs1433533825	RCV001148497\|RCV001148498\|RCV001148499\|RCV001150065;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MOND	4	15982037	15982037	4:g.15982037A>G	-
NM_006017.3(PROM1):c.2485G>A (p.Asp829Asn)	8842	PROM1	Conflicting interpretations of pathogenicity	rs146434364	RCV001150066\|RCV001150067\|RCV001150068\|RCV001150069\|RCV001326315;	N	MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121	4	15982049	15982049	4:g.15982049C>T	-
NM_006017.3(PROM1):c.2480T>C (p.Val827Ala)	8842	PROM1	Uncertain significance	rs886059198	RCV000298975\|RCV000335189\|RCV000392496\|RCV000401717;	N	MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MON	4	15982054	15982054	4:g.15982054A>G	ClinGen:CA10620367	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.2446G>C (p.Ala816Pro)	8842	PROM1	Uncertain significance	rs368515078	RCV001092551\|RCV002482152\|RCV001074064;	N	MedGen:CN517202\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827; MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872; MONDO:MONDO:0012796,MedGen:C2677516,OMIM:612095, Orphanet:791; MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051,Orpha	4	15982088	15982088	4:g.15982088C>G	-
NM_006017.3(PROM1):c.2373+13C>G	8842	PROM1	Uncertain significance	rs886059199	RCV000278589\|RCV000318449\|RCV000342928\|RCV000373139;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MOND	4	15985873	15985873	4:g.15985873G>C	ClinGen:CA10618195	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.2364C>T (p.Ile788=)	8842	PROM1	Conflicting interpretations of pathogenicity	rs551849678	RCV000283949\|RCV000339031\|RCV000399383\|RCV000399730\|RCV001442000;	N	MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MOND	4	15985895	15985895	4:g.15985895G>A	ClinGen:CA2866416	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.2284A>G (p.Ser762Gly)	8842	PROM1	Conflicting interpretations of pathogenicity	rs202029748	RCV000274073\|RCV000319916\|RCV000355970\|RCV000368747\|RCV000839749;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|MON	4	15985975	15985975	NC_000004.11:g.15985975T>C	ClinGen:CA2866434	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.2281-5C>G	8842	PROM1	Uncertain significance	rs777654968	RCV000260970\|RCV000285875\|RCV000316222\|RCV000380196\|RCV001247620;	N	MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MON	4	15985983	15985983	NC_000004.11:g.15985983G>C	ClinGen:CA2866438	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.2211+7C>T	8842	PROM1	Conflicting interpretations of pathogenicity	rs372262346	RCV000300221\|RCV000312096\|RCV000366791\|RCV000391793\|RCV001455863;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MOND	4	15987573	15987573	NC_000004.11:g.15987573G>A	ClinGen:CA2866473	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.2112C>T (p.Arg704=)	8842	PROM1	Conflicting interpretations of pathogenicity	rs375358457	RCV000844932\|RCV000908779\|RCV001146424\|RCV001146425\|RCV001146426\|RCV001146427;	N	MONDO:MONDO:0019353,MedGen:C0271093, Orphanet:827\|MedGen:CN517202\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|H	4	15989304	15989304	4:g.15989304G>A	-
NM_006017.3(PROM1):c.2094C>A (p.Ser698Arg)	8842	PROM1	Conflicting interpretations of pathogenicity	rs199727800	RCV001146428\|RCV001146430\|RCV001146429\|RCV001149203\|RCV001229010;	N	MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MOND	4	15989322	15989322	4:g.15989322G>T	-
NM_006017.3(PROM1):c.2050C>G (p.Arg684Gly)	8842	PROM1	Uncertain significance	rs530749007	RCV001149204\|RCV001149205\|RCV001149206\|RCV001149207\|RCV002557210;	N	MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MOND	4	15991381	15991381	4:g.15991381G>C	-
NM_006017.3(PROM1):c.1977C>T (p.Asn659=)	8842	PROM1	Conflicting interpretations of pathogenicity	rs149028760	RCV000081346\|RCV000296436\|RCV000326660\|RCV000351307\|RCV000381327\|RCV000892544;	N	MedGen:CN169374\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:00	4	15992851	15992851	4:g.15992851G>A	ClinGen:CA148434	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu)	8842	PROM1	Conflicting interpretations of pathogenicity	rs761911901	RCV000487979\|RCV000765764\|RCV001199723;	N	MedGen:CN517202\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872; MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827; MONDO:MONDO:0012796,MedGen:C2677516,OMIM:612095, Orphanet:791; MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051,Orpha	4	15992882	15992882	4:g.15992882G>A	ClinGen:CA2866577	CN517202 not provided;
NM_006017.3(PROM1):c.1911+14G>A	8842	PROM1	Conflicting interpretations of pathogenicity	rs79077926	RCV000272696\|RCV000309053\|RCV000357535\|RCV000363702\|RCV001513432;	N	MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121	4	15993857	15993857	NC_000004.11:g.15993857C>T	ClinGen:CA2866604	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.1911+8G>A	8842	PROM1	Conflicting interpretations of pathogenicity	rs370302107	RCV000787863\|RCV000895051\|RCV001149316\|RCV001146547\|RCV001146548;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MedGen:CN517202\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657,O	4	15993863	15993863	4:g.15993863C>T	-
NM_006017.3(PROM1):c.1871G>A (p.Cys624Tyr)	8842	PROM1	Uncertain significance	rs886059200	RCV000269012\|RCV000274850\|RCV000333496\|RCV000387939;	N	MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MON	4	15993911	15993911	NC_000004.11:g.15993911C>T	ClinGen:CA10618197	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.1751A>G (p.His584Arg)	8842	PROM1	Conflicting interpretations of pathogenicity	rs140027620	RCV000969187\|RCV001150810\|RCV001150811\|RCV001150812\|RCV001150809;	N	MedGen:CN517202\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:00	4	15995626	15995626	4:g.15995626T>C	-
NM_006017.3(PROM1):c.1710C>T (p.Tyr570=)	8842	PROM1	Conflicting interpretations of pathogenicity	rs201644238	RCV001144701\|RCV001144702\|RCV001144703\|RCV001146664\|RCV002557089;	N	MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MOND	4	15995667	15995667	4:g.15995667G>A	-
NM_006017.3(PROM1):c.1579-6T>C	8842	PROM1	Conflicting interpretations of pathogenicity	rs181261277	RCV000277946\|RCV000314370\|RCV000363164\|RCV000369060\|RCV000956181;	N	MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MOND	4	16000117	16000117	NC_000004.11:g.16000117A>G	ClinGen:CA2866715	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.1579-12A>C	8842	PROM1	Conflicting interpretations of pathogenicity	rs370183490	RCV001147571\|RCV001147573\|RCV001147572\|RCV001147574\|RCV002070791;	N	MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MON	4	16000123	16000123	4:g.16000123T>G	-
NM_006017.3(PROM1):c.1578+9G>C	8842	PROM1	Conflicting interpretations of pathogenicity	rs747638667	RCV000261455\|RCV000262727\|RCV000320164\|RCV000353950\|RCV002057918;	N	MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MOND	4	16002110	16002110	NC_000004.11:g.16002110C>G	ClinGen:CA2866728	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp)	8842	PROM1	Conflicting interpretations of pathogenicity	rs201870277	RCV000283728\|RCV000322364\|RCV000323535\|RCV000380476\|RCV000594499;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MOND	4	16002121	16002121	NC_000004.11:g.16002121G>A	ClinGen:CA2866732	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.1497C>T (p.Ile499=)	8842	PROM1	Conflicting interpretations of pathogenicity	rs113895168	RCV000153771\|RCV000757689\|RCV001144801\|RCV001150902\|RCV001150903\|RCV001150904;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0011370,MedGen:C18635	4	16002200	16002200	4:g.16002200G>A	ClinGen:CA180342	CN169374 not specified;
NM_006017.3(PROM1):c.1491G>T (p.Leu497Phe)	8842	PROM1	Conflicting interpretations of pathogenicity	rs200520976	RCV000291776\|RCV000344405\|RCV000383774\|RCV000400713\|RCV001510571;	N	MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121	4	16002206	16002206	NC_000004.11:g.16002206C>A	ClinGen:CA2866747	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.1468A>T (p.Ser490Cys)	8842	PROM1	Conflicting interpretations of pathogenicity	rs536622788	RCV001144802\|RCV001144803\|RCV001144804\|RCV001146761\|RCV001326038;	N	MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121	4	16002229	16002229	4:g.16002229T>A	-
NM_006017.3(PROM1):c.1450A>G (p.Met484Val)	8842	PROM1	Uncertain significance	-1	RCV002028275\|RCV002486592;	N	MedGen:CN517202\|MONDO:MONDO:0012796,MedGen:C2677516,OMIM:612095, Orphanet:791; MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827; MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640; MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657,Orp	4	16008165	16008165	16008165	-
NM_006017.3(PROM1):c.1387T>C (p.Tyr463His)	8842	PROM1	Uncertain significance	rs1297490531	RCV001146766\|RCV001146767\|RCV001146768\|RCV001147665;	N	MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MON	4	16008228	16008228	4:g.16008228A>G	-
NM_006017.3(PROM1):c.1377C>T (p.Gly459=)	8842	PROM1	Conflicting interpretations of pathogenicity	rs779072238	RCV000295344\|RCV000312842\|RCV000352517\|RCV000401437\|RCV001861230;	N	MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121	4	16008238	16008238	NC_000004.11:g.16008238G>A	ClinGen:CA2866789	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.1345G>A (p.Val449Met)	8842	PROM1	Conflicting interpretations of pathogenicity	rs200620291	RCV000724359\|RCV001151003\|RCV001147667\|RCV001147668\|RCV001147666\|RCV001535742;	N	MedGen:CN517202\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051,Orph	4	16008270	16008270	4:g.16008270C>T	ClinGen:CA239871	CN169374 not specified;
NM_006017.3(PROM1):c.1301+11C>A	8842	PROM1	Conflicting interpretations of pathogenicity	rs189953160	RCV001144910\|RCV001151004\|RCV001151005\|RCV001151006;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MOND	4	16010561	16010561	4:g.16010561G>T	-
NM_006017.3(PROM1):c.1301+10T>A	8842	PROM1	Conflicting interpretations of pathogenicity	rs192338518	RCV001144914\|RCV001144911\|RCV001144912\|RCV001144913;	N	MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MON	4	16010562	16010562	4:g.16010562A>T	-
NM_006017.3(PROM1):c.1279T>A (p.Leu427Met)	8842	PROM1	Uncertain significance	rs200710798	RCV000265119\|RCV000266734\|RCV000324262\|RCV000358025\|RCV001241226;	N	MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121	4	16010594	16010594	NC_000004.11:g.16010594A>T	ClinGen:CA10620411	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.1279T>C (p.Leu427=)	8842	PROM1	Conflicting interpretations of pathogenicity	rs200710798	RCV000935482\|RCV001146867\|RCV001144916\|RCV001144915\|RCV001144917;	N	MedGen:CN517202\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051,Orp	4	16010594	16010594	4:g.16010594A>G	-
NM_006017.3(PROM1):c.1271T>C (p.Leu424Ser)	8842	PROM1	Uncertain significance	rs886059202	RCV000287882\|RCV000326558\|RCV000327805\|RCV000384644;	N	MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121	4	16010602	16010602	NC_000004.11:g.16010602A>G	ClinGen:CA10618199	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.1218C>G (p.Leu406=)	8842	PROM1	Conflicting interpretations of pathogenicity	rs886059203	RCV000295982\|RCV000348661\|RCV000388013\|RCV000394593\|RCV001504867;	N	MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121	4	16010655	16010655	NC_000004.11:g.16010655G>C	ClinGen:CA10617341	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.1199T>C (p.Leu400Pro)	8842	PROM1	Conflicting interpretations of pathogenicity	rs140682455	RCV000431346\|RCV001147772\|RCV001147774\|RCV001147773\|RCV001151114;	N	MedGen:CN517202\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051,Orp	4	16010674	16010674	4:g.16010674A>G	ClinGen:CA2866836	CN169374 not specified;
NM_006017.3(PROM1):c.1195C>T (p.Arg399Cys)	8842	PROM1	Conflicting interpretations of pathogenicity	rs770268627	RCV001151116\|RCV001151118\|RCV001151115\|RCV001151117\|RCV001858986;	N	MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MON	4	16010678	16010678	4:g.16010678G>A	-
NM_006017.3(PROM1):c.1152G>C (p.Arg384Ser)	8842	PROM1	Conflicting interpretations of pathogenicity	rs201748228	RCV001044541\|RCV001151119\|RCV001151120\|RCV001151121\|RCV001145008;	N	MedGen:CN517202\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,O	4	16010721	16010721	4:g.16010721C>G	-
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)	8842	PROM1	Pathogenic	rs137853006	RCV000005960\|RCV000005961\|RCV000005962\|RCV000479499\|RCV000504765\|RCV000787649\|RCV000787648\|RCV001723543\|RCV002496275;	N	MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|MedGen:CN517202\|Human Phenotype Ontology:HP:0000556,Human Phenotyp	4	16014922	16014922	NC_000004.11:g.16014922G>A	ClinGen:CA117645,UniProtKB:O43490#VAR_057961,OMIM:604365.0003	C0339512 608051 Bull's eye macular dystrophy;
NM_006017.3(PROM1):c.1003-35A>C	8842	PROM1	Benign	-1	RCV001674013\|RCV001789499\|RCV001789500\|RCV001789501\|RCV001789502;	N	MedGen:CN517202\|MONDO:MONDO:0012796,MedGen:C2677516,OMIM:612095, Orphanet:791\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657,Orp	4	16017898	16017898	16017898	-
NM_006017.3(PROM1):c.963G>T (p.Leu321Phe)	8842	PROM1	Conflicting interpretations of pathogenicity	rs202041422	RCV000282344\|RCV000304480\|RCV000335053\|RCV000399717\|RCV002057919;	N	MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MOND	4	16019985	16019985	NC_000004.11:g.16019985C>A	ClinGen:CA2866910	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.868A>C (p.Ser290Arg)	8842	PROM1	Conflicting interpretations of pathogenicity	rs182096110	RCV000303463\|RCV000313919\|RCV000361771\|RCV000365161\|RCV000400435\|RCV000950665;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MedGen:CN169374\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051,Orp	4	16020080	16020080	4:g.16020080T>G	ClinGen:CA2866931	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.843C>T (p.His281=)	8842	PROM1	Conflicting interpretations of pathogenicity	rs374394451	RCV000273099\|RCV000276686\|RCV000307126\|RCV000364245\|RCV002057920;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MON	4	16020105	16020105	NC_000004.11:g.16020105G>A	ClinGen:CA2866936	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.731G>A (p.Arg244Gln)	8842	PROM1	Conflicting interpretations of pathogenicity	rs369815021	RCV000308028\|RCV000347822\|RCV000369682\|RCV000398824\|RCV001300200;	N	MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MOND	4	16025002	16025002	NC_000004.11:g.16025002C>T	ClinGen:CA2866970	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.718G>A (p.Gly240Arg)	8842	PROM1	Uncertain significance	rs752543587	RCV000262406\|RCV000277700\|RCV000311752\|RCV000368672\|RCV001350400;	N	MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|MON	4	16025015	16025015	NC_000004.11:g.16025015C>T	ClinGen:CA10620390	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.717C>T (p.Gly239=)	8842	PROM1	Conflicting interpretations of pathogenicity	rs763697898	RCV000266664\|RCV000315947\|RCV000324190\|RCV000372846\|RCV001454692;	N	MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|MON	4	16025016	16025016	NC_000004.11:g.16025016G>A	ClinGen:CA2866976	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.714A>G (p.Gly238=)	8842	PROM1	Conflicting interpretations of pathogenicity	rs201662148	RCV000890690\|RCV001000892\|RCV001147060\|RCV001147061\|RCV001147063\|RCV001147062;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|Human Phenotype Ontology:HP:000054	4	16025019	16025019	4:g.16025019T>C	-
NM_006017.3(PROM1):c.677C>T (p.Ala226Val)	8842	PROM1	Conflicting interpretations of pathogenicity	rs376198840	RCV000998230\|RCV001149511\|RCV001147961\|RCV001147962\|RCV001147963;	N	MedGen:CN517202\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:00	4	16025935	16025935	4:g.16025935G>A	-
NM_006017.3(PROM1):c.631-14T>C	8842	PROM1	Benign/Likely benign	rs16892824	RCV000287975\|RCV000314928\|RCV000345306\|RCV000396849\|RCV001518834\|RCV002502339;	N	MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121	4	16025995	16025995	NC_000004.11:g.16025995A>G	ClinGen:CA2867015	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly)	8842	PROM1	Conflicting interpretations of pathogenicity	rs140872693	RCV000171375\|RCV000299552\|RCV000356757\|RCV000348573\|RCV000390528\|RCV000765766\|RCV000987426\|RCV001257791;	N	MedGen:CN517202\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:00	4	16026841	16026841	4:g.16026841G>C	ClinGen:CA236211	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.556C>T (p.Arg186Trp)	8842	PROM1	Uncertain significance	rs369512467	RCV000268102\|RCV000298692\|RCV000360430\|RCV000390262\|RCV001861231;	N	MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MON	4	16026889	16026889	NC_000004.11:g.16026889G>A	ClinGen:CA2867045	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.380G>T (p.Gly127Val)	8842	PROM1	Uncertain significance	rs1733212554	RCV001145211\|RCV001145210\|RCV001145212\|RCV001147172;	N	MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MON	4	16035056	16035056	4:g.16035056C>A	-
NM_006017.3(PROM1):c.376G>A (p.Val126Met)	8842	PROM1	Conflicting interpretations of pathogenicity	rs199556426	RCV001147175\|RCV001147176\|RCV001147173\|RCV001147174\|RCV001241210;	N	MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121	4	16035060	16035060	4:g.16035060C>T	-
NM_006017.3(PROM1):c.303+6G>A	8842	PROM1	Benign	rs2078622	RCV000253413\|RCV000271856\|RCV000321055\|RCV000329200\|RCV000359497\|RCV000836050\|RCV001789282;	N	MedGen:CN169374\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657,O	4	16037352	16037352	NC_000004.11:g.16037352C>T	ClinGen:CA2867118	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.277-15C>T	8842	PROM1	Conflicting interpretations of pathogenicity	rs372599685	RCV000289511\|RCV000332880\|RCV000381583\|RCV000389815\|RCV002057921;	N	MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121	4	16037399	16037399	NC_000004.11:g.16037399G>A	ClinGen:CA2867123	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.276+15G>T	8842	PROM1	Conflicting interpretations of pathogenicity	rs766012920	RCV000278099\|RCV000295776\|RCV000350668\|RCV000394477;	N	MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121	4	16040554	16040554	4:g.16040554C>A	ClinGen:CA2867130	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.228G>A (p.Leu76=)	8842	PROM1	Benign	rs76963591	RCV000081348\|RCV000302705\|RCV000337715\|RCV000362013\|RCV000399220\|RCV001518003;	N	MedGen:CN169374\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:00	4	16040617	16040617	4:g.16040617C>T	ClinGen:CA148437	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.181A>G (p.Ile61Val)	8842	PROM1	Conflicting interpretations of pathogenicity	rs201701647	RCV000273204\|RCV000308324\|RCV000363045\|RCV000400360\|RCV001439949;	N	MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121	4	16077349	16077349	4:g.16077349T>C	ClinGen:CA2867174	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.158G>A (p.Gly53Asp)	8842	PROM1	Conflicting interpretations of pathogenicity	rs755064227	RCV001145315\|RCV001145316\|RCV001145317\|RCV001147260\|RCV001366102;	N	MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MON	4	16077372	16077372	4:g.16077372C>T	-
NM_006017.3(PROM1):c.155T>C (p.Ile52Thr)	8842	PROM1	Uncertain significance	rs778896066	RCV000273932\|RCV000327985\|RCV000333734\|RCV000368597\|RCV001850847;	N	MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MON	4	16077375	16077375	4:g.16077375A>G	ClinGen:CA2867181	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.129C>T (p.Thr43=)	8842	PROM1	Benign	rs10033086	RCV000252686\|RCV000279950\|RCV000316444\|RCV000375651\|RCV000388410\|RCV001509696;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051,Orph	4	16077401	16077401	4:g.16077401G>A	ClinGen:CA2867187	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.105A>G (p.Glu35=)	8842	PROM1	Uncertain significance	rs886059205	RCV000280677\|RCV000286424\|RCV000340399\|RCV000398030;	N	MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121	4	16077425	16077425	4:g.16077425T>C	ClinGen:CA10618201	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.15C>T (p.Leu5=)	8842	PROM1	Benign	rs10033189	RCV000249658\|RCV000277416\|RCV000312520\|RCV000367292\|RCV000398887\|RCV001512766;	N	MedGen:CN169374\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:00	4	16077515	16077515	4:g.16077515G>A	ClinGen:CA2867201	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.-25T>A	8842	PROM1	Conflicting interpretations of pathogenicity	rs149845694	RCV000259686\|RCV000313534\|RCV000319521\|RCV000354399;	N	MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MOND	4	16077554	16077554	4:g.16077554A>T	ClinGen:CA2867210	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.-127A>G	8842	PROM1	Uncertain significance	rs886059206	RCV000289358\|RCV000290663\|RCV000344310\|RCV000384989\|RCV002480212;	N	MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121	4	16077656	16077656	4:g.16077656T>C	ClinGen:CA10620456	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.-168G>A	8842	PROM1	Uncertain significance	rs180926533	RCV000261622\|RCV000296943\|RCV000356355\|RCV000401292;	N	MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827\|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872\|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121	4	16077697	16077697	4:g.16077697C>T	ClinGen:CA10618203	CN239348 Cone-Rod Dystrophy, Dominant;

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